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Advanced Download Gene List
  • PURA
    • Pura Syndrome
    • Aura (Symptom)
  • ATRX
    • Alpha-Thalassemia Mental Retardation Syndrome
  • PCDH19
    • Epilepsy-Intellectual Disability In Females
    • Aura (Symptom)
  • TTPA
    • Familial Isolated Vitamin E Deficiency
  • FMR1
    • Fragile X Tremor/ataxia Syndrome
    • Renpenning's Syndrome
  • PQBP1
    • Renpenning's Syndrome
  • PRPS1
    • Arts Syndrome
  • FAM20A
    • Enamel-Renal Syndrome
  • NFU1
    • Multiple Mitochondrial Dysfunctions Syndrome
  • UBA1
    • X-Linked Spinal Muscular Atrophy Type 2
  • IFIH1
    • Singleton Merten Syndrome
  • ISCU
    • Myopathy With Deficiency Of Iron-Sulfur Cluster Assembly Enzyme
  • FLNA
    • Cluster B Personality Disorders
    • Aura (Symptom)
    • Intestinal Neuronal Dysplasia
  • ASS1
    • Citrullinemia Type I
  • GLRB
    • Hyperekplexia
  • SLC6A5
    • Hyperekplexia
  • RB1
    • Pinealoblastoma
    • Trilateral Retinoblastoma
  • CDKL5
    • Aura (Symptom)
    • Craniodiaphyseal Dysplasia
  • GLRA1
    • Hyperekplexia
  • FH
    • Fumarase Deficiency

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